ClinVar Miner

List of variants studied for Alagille syndrome due to a NOTCH2 point mutation by Baylor Genetics

Included ClinVar conditions (2):
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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_024408.4(NOTCH2):c.5732G>A (p.Arg1911His) rs1216790064 0.00001
NM_024408.4(NOTCH2):c.686C>A (p.Pro229His) rs781850215 0.00001
NM_024408.4(NOTCH2):c.1492T>C (p.Cys498Arg)
NM_024408.4(NOTCH2):c.2587C>T (p.Pro863Ser) rs1650362306
NM_024408.4(NOTCH2):c.5031G>T (p.Gln1677His) rs1345166838
NM_024408.4(NOTCH2):c.6325A>G (p.Lys2109Glu) rs1649072477

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